Ichthyosis-Mental Retardation Syndrome With Large Keratohyalin Granules In The Skin

Clinical Features

Devriendt et al. (1996) described a 2.5-year-old severely mentally retarded boy with peculiar appearance and generalized ichthyosis. He was born to consanguineous Turkish parents. The histologic finding in the skin biopsy of unusually large oval keratohyalin granules in the granular cells was unique, and had hitherto not been reported in other ichthyosis-mental retardation syndromes.